Article Abstract:
Adrenoleukodystrophy (ALD) is an inherited disease of childhood marked by diffuse abnormality of cerebral (largest portion of the brain) white matter and atrophy of the adrenal glands. The adrenal glands produce chemicals, steroids and hormones which affect many body systems and are controlled by the nervous system. Mental deterioration progresses to dementia, difficulty in speaking and swallowing and loss of sight. Almost all ALD patients show abnormal adrenal functioning when tested, but only one third exhibit clinical symptoms of adrenal insufficiency. Previously only five cases of ALD were reported in adults who were under the age of 30 years. This case study discusses a 48-year-old male Italian immigrant who developed personality changes and depression. A few months later he became less communicative, inactive, abusive, sexually aggressive, and showed little interest in personal hygiene. As his symptoms worsened the patient had hallucinations, attempted suicide several times and became disoriented and incontinent. Although the results of numerous laboratory tests were within normal ranges, it was found that the protein value in the patient's spinal fluid was elevated. Examination of the patient's vision was incomplete. Computed tomography (CT) scan of his brain revealed abnormalities in the patient's cerebrum, corpus callosum, occipital lobes and temporal lobes. The patient's mental status continued to deteriorate and he suffered seizures; he died from a pulmonary embolism at the age of 53. Postmortem examination of the brain found widespread destruction in the white matter of several major regions. There was also a loss of myelin (the fatlike sheath around some nerves) in many areas, including the optic nerves and tracts.
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Article Abstract:
Generalized bronchiectasis is the widespread dilation of the bronchi, or airways, and may be congenital (present at birth) or result from bacterial infection. It is characterized by symptoms of cough, difficulty breathing, and foul smelling sputum. Congenital generalized bronchiectasis has been associated with various genetic disorders, including the Williams-Campbell syndrome. This syndrome is characterized by soft, compliant, or flexible, bronchi that dilate and collapse during inhalation and exhalation; extensive lack of cartilage tissue in the airways; and symptoms of chronic cough, wheezing, difficulty breathing, and recurrent respiratory infection. A diagnosis of congenital bronchiectasis is usually made during childhood and is based on findings of physical examination, laboratory and lung function tests, examination of the bronchi by bronchoscopy or imaging techniques, and chest X-ray. A case is described of a 23-year-old man with the characteristics of congenital bronchiectasis, or the Williams-Campbell syndrome. This case was unusual in that it was recognized in adulthood. The patient had a history of respiratory illness and experienced difficulty breathing after walking and exercise. Findings from chest X-ray, lung function tests, and computed tomographic scan of the chest suggested a diagnosis of Williams-Campbell syndrome. He was placed on home oxygen treatment and taught methods to drain fluids from his lungs by changing body position and percussing, or tapping, on the chest wall. The Williams-Campbell syndrome should be considered in adult patients with generalized bronchiectasis. (Consumer Summary produced by Reliance Medical Information, Inc.)
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Adult T-cell leukemia is a cancer of blood cells caused by the human T-cell leukemia virus type I. This cancer is endemic to southern Japan and the Caribbean basin. The disease is characterized by abnormalities of the nucleus of T lymphocytes (a type of immune cell), the presence of antibodies directed against the human T-cell leukemia virus, and an increased incidence of hypercalcemia (abnormally high blood calcium levels). Hypercalcemia has been previously reported to cause acute pancreatitis, or inflammation of the pancreas. However, the development of acute pancreatitis due to hypercalcemia associated with adult T-cell leukemia has not been previously reported. Two cases are described of patients with adult T-cell leukemia who developed acute pancreatitis and hypercalcemia. These conditions were detected after the sudden development of epigastralgia (pain in the epigastrium, the region over the pit of the stomach). The patients had no evidence of other possible causes of pancreatitis with the exception of hypercalcemia. Hence, hypercalcemia associated with adult T-cell leukemia was the most likely factor contributing to the development of pancreatitis. These cases are the first report of pancreatitis as a complication of adult T-cell leukemia. (Consumer Summary produced by Reliance Medical Information, Inc.)
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